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Mutation Direct

Effortless mutation search and display tool

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Gene: CHKB & Disease: MDCMC, 299 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
573092	CHKB	c.581G>A	p.Arg194Gln (p.R194Q)	NM_005198.5 M	SNV	P	1 +	4
560978	CHKB	c.1031+3G>C	--	NM_005198.5 M	SNV	P	1 +	4
30952	CHKB	c.810T>A	p.Tyr270Ter (p.Y270X)	NM_005198.5 M	SNV	P	1 +	3
259659	CHKB	c.457T>C	p.Leu153= (p.L153=)	NM_005198.5 M	SNV	LB	1 +	3
128728	CHKB	c.216C>T	p.Tyr72= (p.Y72=)	NM_005198.5 M	SNV	LB	1 +	3
639037	CHKB	c.598del	p.Gln200fs (p.Q200fs)	NM_005198.5 M	Del	P	1 +	2
342167	CHKB	c.980C>T	p.Ser327Phe (p.S327F)	NM_005198.5 M	SNV	VUS	1 +	2
342172	CHKB	c.722A>G	p.Asn241Ser (p.N241S)	NM_005198.5 M	SNV	VUS	1 +	2
30953	CHKB	c.116C>A	p.Ser39Ter (p.S39X)	NM_005198.5 M	SNV	P	1 +	2
1497597	CHKB	c.677+3G>A	--	NM_005198.5 M	SNV	VUS	1 +	2
447030	CHKB	c.263C>T	p.Pro88Leu (p.P88L)	NM_005198.5 M	SNV	LB	1 +	2
2011863	CHKB	c.736+5_736+7del	--	NM_005198.5 M	Del	VUS	1 +	2
451378	CHKB	c.151C>T	p.Gln51Ter (p.Q51X)	NM_005198.5 M	SNV	P	1 +	2
547961	CHKB	c.642G>T	p.Glu214Asp (p.E214D)	NM_005198.5 M	SNV	VUS	1 +	2
2165925	CHKB	c.677+1G>C	--	NM_005198.5 M	SNV	P	1 +	2
1406190	CHKB	c.1113+4A>T	--	NM_005198.5 M	SNV	VUS	1 +	2
638334	CHKB	c.138G>T	p.Glu46Asp (p.E46D)	NM_005198.5 M	SNV	LB	1 +	2
468477	CHKB	c.902C>T	p.Thr301Ile (p.T301I)	NM_005198.5 M	SNV	LB	1 +	2
851517	CHKB	c.447+5G>C	--	NM_005198.5 M	SNV	VUS	1 +	2
259660	CHKB	c.582-13_582-11del	--	NM_005198.5 M	Del	LB	1 +	2

299 Results, 20 per Page

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